Canonical Allele Identifier: CA16615147
Gene: NF1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31182535_31182537del , CM000679.2:g.31182535_31182537del GRCh38
NC_000017.10:g.29509553_29509555del , CM000679.1:g.29509553_29509555del GRCh37
NC_000017.9:g.26533679_26533681del NCBI36
NG_009018.1:g.92559_92561del , LRG_214:g.92559_92561del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.758_760del ENSP00000512431.1:p.Val253del
ENST00000686189.1:c.173_175del ENSP00000509682.1:p.Val58del
ENST00000691014.1:c.758_760del ENSP00000510595.1:p.Val253del
ENST00000358273.9:c.758_760del MANE Select ENSP00000351015.4:p.Val253del
ENST00000490416.2:c.338_340del ENSP00000491431.1:p.Val113del
ENST00000356175.7:c.758_760del ENSP00000348498.3:p.Val253del
ENST00000358273.8:c.758_760del ENSP00000351015.4:p.Val253del
ENST00000431387.8:c.758_760del ENSP00000412921.4:p.Val253del
ENST00000487476.5:n.1141_1143del
ENST00000490416.1:n.392_394del
ENST00000495910.6:c.533_535del
ENST00000579081.5:c.860_862del ENSP00000462408.1:p.Val287del
NM_000267.3:c.758_760del , LRG_214t1:c.758_760del NP_000258.1:p.Val253del
NM_001042492.2:c.758_760del , LRG_214t2:c.758_760del NP_001035957.1:p.Val253del
NM_001128147.2:c.758_760del NP_001121619.1:p.Val253del
XM_005257983.1:c.758_760del XP_005258040.1:p.Val253del
XM_005257984.1:c.758_760del XP_005258041.1:p.Val253del
XM_006721922.1:c.758_760del XP_006721985.1:p.Val253del
XM_006721923.2:c.719_721del XP_006721986.1:p.Val240del
XM_006721924.1:c.758_760del XP_006721987.1:p.Val253del
XM_006721925.1:c.758_760del XP_006721988.1:p.Val253del
XM_006721926.2:c.758_760del XP_006721989.1:p.Val253del
XM_006721927.1:c.758_760del XP_006721990.1:p.Val253del
XM_006721928.2:c.758_760del XP_006721991.1:p.Val253del
XM_011524852.1:c.758_760del XP_011523154.1:p.Val253del
XM_011524853.1:c.719_721del XP_011523155.1:p.Val240del
XM_011524854.1:c.719_721del XP_011523156.1:p.Val240del
XM_011524855.1:c.719_721del XP_011523157.1:p.Val240del
XM_011524856.1:c.719_721del XP_011523158.1:p.Val240del
XM_011524857.1:c.758_760del XP_011523159.1:p.Val253del
NM_001042492.3:c.758_760del MANE Select NP_001035957.1:p.Val253del
NM_001128147.3:c.758_760del NP_001121619.1:p.Val253del
Search 100 bp 5'
Search 100 bp 3'